An Observational Study to Assess Disease Progression in Women With X-linked Adrenoleukodystrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Spinal cord magnetization transfer ratio (MTR)
研究概览
简要总结
Observational, single-site prospective and minimally interventional study in women with X-linked adrenoleukodystrophy (ALD), conducted in France.
详细描述
Patients accepting participation (after signing ICF) will be followed up to at least 2 years or until they started treatment for X-linked adrenoleukodystrophy (ALD) or withdraw consent, whichever occurs first. Follow-up will be extended beyond 2 years if deemed appropriate after an interim report. Tests and questionnaires will be assessed at baseline and yearly. If the study is extended, beyond 2 years, patients will be assessed at 1-year intervals.
At baseline visit and follow-up visits, patients will undergo an MRI of the brain and the spinal cord and assessments of body sway, EDSS, ADL, pain VAS and SF-36 questionnaire. Plasma biomarkers will be assessed from samples obtained through routine blood draw and a monthly falls diary will be provided each visit to be completed once a month.
This study will not assess any specific medicinal product or intervention, and the study will not interfere with that prescribed in clinical practice.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Women aged 18 years old or older.
- •Diagnosis of X-linked ALD based on genetic testing, altered VLCFA levels, or family history.
- •Willing to undergo annual follow-up visits, including brain and spinal cord MRI scans.
- •Provision of written informed consent.
- •Affiliation or beneficiary of a French social security system or of such a regime.
排除标准
- •Any condition that in the opinion of the investigator are likely to adversely affect the study participation, interfere with study compliance, or confound the study results.
- •Under treatment or previous treatment with leriglitazone.
- •Pregnant or lactating women.
- •Subjects benefiting from laws aimed at protecting vulnerable adults: subjects being deprived of liberty by judicial or administrative decision, subjects under guardianship.
- •Participation in an interventional clinical trial.
结局指标
主要结局
Spinal cord magnetization transfer ratio (MTR)
时间窗: Change from baseline up to 2 years
To assess the disease evolution on spinal cord MRI
次要结局
- Spinal cord diffusion image analysis parameters: Fractional Anisotropy (FA), Radial Diffusivity (RD), Axial Diffusivity (AD), Mean Diffusivity (MD) at the cervical levels C1-C5.(Change from baseline up to 2 years)
- Brain diffusion image analysis parameters: Fixel-Based analysis (FBA) (Fiber Density (FD), Fiber cross-section (FC) and combination of FD and FC), Diffusion tensor imaging (DTI) (FA, RD, AD, MD, Markers of severity and markers of evolution).(Change from baseline up to 2 years)
- Expanded Disability Status Scale (EDSS)(Change from baseline up to 2 years)
- Spinal cord morphometry. Cross sectional area (CSA) to cover the C1 to C7 vertebral levels.(Change from baseline up to 2 years)
- Plasma biomarkers (NFL, MMP-9, IL-18, MIP-1beta and IL-1Ra)(Change from baseline up to 2 years)
- Activities of Daily Living (ADL)(Change from baseline up to 2 years)
- Pain Visual Analogue Scale (Pain VAS)(Change from baseline up to 2 years)
- Short Form Health Survey (SF-36)(Change from baseline up to 2 years)
- Body sway amplitude (considering antero-posterior and medio-lateral sway with eyes closed, feet apart; eyes open, feet apart; eyes closed, feet together; eyes open, feet together)(Change from baseline up to 2 years)
- Monthly falls(Change from baseline up to 2 years)